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rs786204530

From SNPedia

Orientationplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs786204530(AC;CA)
Make rs786204530(CA;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position21563212
GeneALPL
is asnp
is mentioned by
dbSNPrs786204530
ebirs786204530
HLIrs786204530
Exacrs786204530
Varsomers786204530
Maprs786204530
PheGenIrs786204530
hapmaprs786204530
1000 genomesrs786204530
hgdprs786204530
ensemblrs786204530
gopubmedrs786204530
geneviewrs786204530
scholarrs786204530
googlers786204530
pharmgkbrs786204530
gwascentralrs786204530
openSNPrs786204530
23andMers786204530
23andMe allrs786204530
SNP Nexus

SNPshotrs786204530
SNPdbers786204530
MSV3drs786204530
GWAS Ctlgrs786204530
Max Magnitude0
ClinVar
Risk rs786204530(CA;CA)
Alt rs786204530(CA;CA)
Reference rs786204530(AC;AC)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21889705_21889706delACinsCA
CLNSRC
CLNACC RCV000169231.1,